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Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients

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Author(s)
Young-Wook RyooByung-Chun KimKyu-Suk Lee
Keimyung Author(s)
Ryoo, Young WookKim, Byung ChunLee, Kyu Suk
Department
Dept. of Dermatology (피부과학)
Journal Title
Journal of Dermatological Science
Issued Date
2001
Volume
26
Issue
2
Keyword
Recessive dystrophic epidermolysis bullosaMitis (M-RDEB)/type VII collagen (COL7A1)Mutations
Abstract
In recent years, the molecular basis for the main subtypes of epidermolysis bullosa (EB) has been elucidated with
pathogenetic mutations delineated in ten different genes encoding structural components of the dermal–epidermal
junction. Both the autosomal dominant and recessive forms of dystrophic EB (DEB) is caused by mutations in the
COL7A1 gene. Type VII collagen is a major component of anchoring fibrils, structural elements that stabilize the
attachment of the basement membrane to underlying dermis. Recent delineation of the exon–intron organization of
the COL7A1 gene provided the basis for the comprehensive design of PCR primer pairs that amplified exons in
genomic DNA by placing the primers on the flanking introns. A number of COL7A1 mutations have been reported
and some genotype–phenotype correlations are starting to emerge. In this study, we examined mutational analyses
from three Korean patients with recessive dystrophic EB (RDEB) mitis. We designed and optimized primers
according to the previously reported sequences. Such PCR amplification products can be examined by electrophoretic
scanning technique, CSGE heteroduplex analyses. Utilizing heteroduplex analyses, we have identified a number of
sequence variants in COL7A1 both in unaffected individuals and in patients with M-RDEB. Mutation detection of
the COL7A1 gene revealed six allelic mutations (V6677E, P6685S, Y3749S, P6084S, P6695R and G6697C). We
suggest that the full length of type VII collagen polypeptide are synthesized, but those missense mutations, that may
affect a critical amino acid, can alter the conformation of the protein and interferes with the assembly and packing
of type VII collagen molecules into anchoring fibrils. Immunohistochemical study of skin biopsies by use of anti-type
VII collagen antibody showed markedly reduced staining and presence of a dermo/epidermal cleavage. This is the first
report of a COL7A1 mutation study in DEB from Korean patients. We hope that these data contribute to the
expanding database on COL7A1 mutations in dystrophic epidermolysis bullosa, and further illustrate the extensive
diversity of mutational events that led to the RDEB phenotype.
Keimyung Author(s)(Kor)
류영욱
김병천
이규석
Publisher
School of Medicine
Citation
Young-Wook Ryoo et al. (2001). Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients. Journal of Dermatological Science, 26(2), 125–132. doi: 10.1016/S0923-1811(00)00168-7
Type
Article
ISSN
0923-1811
Source
http://lps3.linkinghub.elsevier.com.proxy.dsmc.or.kr/retrieve/pii/S0923-1811(00)00168-7
DOI
10.1016/S0923-1811(00)00168-7
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/33927
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Dermatology (피부과학)
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